A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723793



Internal ID147459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47700531..47728001hg38UCSC Ensembl
chr19:48203788..48231258hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3827471
hg1927471
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527065
Supporting Variants
Samples
Known GenesEHD2, GLTSCR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723793
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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